Agata Smogorzewska

This study identifies ADH5 and ALDH3-family enzymes as critical for detoxifying endogenous aldehydes in FA-deficient keratinocytes, preventing DNA damage and carcinogenesis.

The paper develops a computational pipeline to predict human protein-protein interactions, identifying 16,000 high-confidence interactions, many previously unknown or structurally unresolved.

This study identifies G-quadruplexes as a source of genome instability in BRCA2-deficient granule cell progenitors and medulloblastoma, suggesting PIF1 helicase as a therapeutic target.

The paper identifies ALDH9A1 deficiency as a source of endogenous DNA damage that requires FA pathway repair, leading to genomic instability and tumorigenesis in FA-deficient cells.

This study shows RTF2 regulates replication repriming and ribonucleotide excision at the replisome, ensuring efficient replication restart and preventing replication stress.

This study shows that inhibiting NHEJ components does not rescue DNA repair defects in FA patient cells, with only partial suppression of chromosomal abnormalities by 53BP1 knockout.

The paper correlates clinical severity in Fanconi anemia with residual function of FANCB missense variants through biochemical and cell-based assays.

This study investigates BRCA2's role in protecting DNA at interstrand crosslinks and shows its distinct function compared to its role in hydroxyurea-induced fork protection.